Malformations of the central nervous system are the second most common congenital anomalies, the highest being congenital heart disease. [1] With the advent of routine obstetric ultrasounds and anomaly scans the diagnosis are made in the antenatal period. Dandy-Walker syndrome is are complex developmental anomaly of the fourth ventricle [2].
Presentation
There are a number of manifestations of the syndrome and they can be variable. The children usually present with slow motor development with delayed milestones. They may also show symptoms of increased intracranial pressure due to hydrocephalus, and these include irritability, vomiting and convulsions. They also present with macrocrania.
The bulk of clinical signs will be noted in the central nervous system with significant signs of cerebellar dysfunction, such as ataxia and nystagmus. Other symptoms such as bradypnea may be present.
The other signs and symptoms are variable, depending on the extent of other malformations in the organ systems such as cardiac symptoms [8].
Entire Body System
- Developmental Delay
DWS should be suspected in patients with waddling gait, hypotonia and developmental delays. [austinpublishinggroup.com]
Around 50 per cent of those children affected will develop developmental delay (see entry Global developmental Delay). [contact.org.uk]
Abstract Key features of Joubert syndrome include developmental delay, hypotonia, hyperpnea and apnea, oculomotor apraxia, and the presence of the molar tooth sign on axial imaging through the brainstem isthmus--the junction of the pons and mesencephalon [ncbi.nlm.nih.gov]
[…] defect of the brain estimated to occur in one case per every 2,500 to 5,000 live births; however, this is likely a significant underestimate because of difficulties diagnosing the syndrome; and,WHEREAS, patients with Dandy-Walker Syndrome present with developmental [michigan.gov]
- Disability
Up to half of affected individuals have intellectual disability that ranges from mild to severe, and those with normal intelligence may have learning disabilities. [en.wikipedia.org]
the important role that disabled Americans played throughout the entire history of the United States, and the scientific, literary, and social impact of disabled Americans on our world today.NOW, THEREFORE, I, Rick Snyder, governor of Michigan, do hereby [michigan.gov]
Intellectual Disability, Abuse and Intellectual Disability: Comorbidity Intellectual Disability: Development and Outcome Intellectual Disability: Mild Intellectual Disability: Moderate Intellectual Disability: Severe and Profound Klinefelter Syndrome [sk.sagepub.com]
Homepage Rare diseases Search Search for a rare disease X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome Disease definition X-linked Dandy-Walker malformation with intellectual disability, basal ganglia [orpha.net]
- Swelling
In some cases, a shunt may be placed in the brain to drain fluid to prevent swelling of the brain. Dandy Walker Syndrome is a genetic condition that occurs in 1 out of 25,000 pregnancies. [babymed.com]
Facial examination revealed swellings at the mandibular symphysis and at the angle region bilaterally. In addition, similar swelling was observed in the region of the right Maxilla [Figure 1]. [journals.lww.com]
Extra fluid can cause pressure and swelling in the brain. Fluid may be drained by: Shunt—A tube is placed from the brain to the abdomen to allow the extra fluid to drain out of the brain. [winchesterhospital.org]
This blockage allows excessive CSF to accumulate, swelling the ventricle and putting pressure on the brain. [unr.edu]
- Falling
The first serious falls occurred 5 years before a unique episode of persecutory delusions and the respective neuroleptic treatment. [gpsych.bmj.com]
The patient first walked at 2.5 years old with a waddling gait and, frequent falls and unsteadiness. Her family history was significant for a father with cerebral palsy. [austinpublishinggroup.com]
The article was published in their Fall 2005 Newsletter, Volume 15, Number 4 (by Marty Elquist and MaryAnn Demchak) More information Colorado Department of Education Phone Number: 303-866-6694 – Ask to speak with a Deaf-Blind Specialist on staff with [cde.state.co.us]
When a seizure is in progress, place the child in a low position in order to avoid drastic results from a fall. [syndrome.org]
- Developmental Disorder
Adjustment Disorders Attention-Deficit/Hyperactivity Disorder Bipolar Disorder Conduct Disorder Depression Developmental Coordination Disorder Developmental Dyscalculia Disorders of Elimination Disruptive Behavior Disorders Disruptive Mood Dysregulation [sk.sagepub.com]
The pathogenesis is incertain; it is generally agreed that it is originated from a developmental disorder brought about by the non-opening of the foramina of Luschka and Magendie. In the literature were found 60 cases reported. [scielo.br]
Development and developmental disorders of the human cerebellum. J Neurol. 2003; 250 :1025–36. [ PubMed ] [ Google Scholar ] 9. Paladini D, Volpe P. [ncbi.nlm.nih.gov]
Jul 14th, 2015 - The human cerebellum has a protracted development that makes it vulnerable to a broad spectrum of developmental disorders including malformations and disruptions. [allmedx.com]
disorders means that they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. [en.wikipedia.org]
Respiratoric
- Abnormal Breathing
Other symptoms include increased head circumference, bulging at the back of the skull, problems with the nerves that control the eyes, face and neck, and abnormal breathing patterns. [urmc.rochester.edu]
Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. [ninds.nih.gov]
- Dyspnea
There is no dyspnea and no stigmata of chronic liver disease. [pedsinreview.aappublications.org]
Cardiovascular
- Hypotension
Since hypotension and/or hypoxia are thought to be present in donor or IUGR twins, particularly with advanced TTTS Stage, this may suggest a new pathophysiologic mechanism for the development of DWS. [ajog.org]
Patulous Eustachian tube in spontaneous intracranial hypotension syndrome. Headache. 2007;47(1):131-135. https://doi.org/10.1111/j.1526-4610.2206.00661.x Albayram S, Bas A. Patulous Eustachian tube in spontaneous intracranial hypotension syndrome. [mediasphera.ru]
Musculoskeletal
- Long Arm
The ZIC4 gene (Zic family member 4), located on the long arm of chromosome 3 (3q24), encodes a member of the protein family ZIC C2H2 type. [ivami.com]
Martsolf JT, Ray M: Interstitial deletion of the long arm of chromosome 3. Annales de genetique. 1983, 26: 98-99. 36. [ojrd.biomedcentral.com]
This gene is located on the long arm of chromosome 1 (1q42.3). Until recently, the medical literature did not indicate a connection among many genetic disorders, both genetic syndromes and genetic diseases, that are now being found to be related. [en.wikipedia.org]
Some autosomal recessive cases with a possible genetic defect on the long arm of chromosome 9. Recurrence risk is considered low (1-5%) if it is not associated with a mendelian disorder. [accessanesthesiology.mhmedical.com]
- Muscle Spasticity
Low muscle tone (hypotonia). Stiff muscles (spasticity). Symptoms in older children include: Vomiting, convulsions and irritability — signs of increased pressure on the brain. [my.clevelandclinic.org]
Symptoms of Dandy-Walker complex that begin in infancy may include a head circumference that is becoming larger faster than expected, low muscle tone (hypotonia ) or very stiff muscles (spasticity ). [rarediseases.info.nih.gov]
- Muscle Hypotonia
The affected person may suffer from psychomotor retardation, ataxia, apnea attacks, muscle weakness, occasional muscle spasm, seizures, nystagmus, and macrocephaly.1,2 However, half of the cases have normal intelligence.1 The etiology of DWS is less understood [dovepress.com]
Neurologic
- Seizure
[…] disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long [orpha.net]
In infants, symptoms can include irritability, seizures, vomiting, abnormal breathing, nystagmus (jerky eye movements), and slow motor development. [encyclopedia.com]
After 6-month follow-up, patient is seizure free with anti-epileptics with almost normal development. [asianjns.org]
A young boy presented with mental retardation and seizures with extensive hairy naevi. After a fluctuating clinical course over the next 2 years, he worsened rapidly with signs of rising intracranial pressure. [ncbi.nlm.nih.gov]
- Irritability
In older children, symptoms of increased intracranial pressure such as irritability, vomiting and convulsions and signs of cerebellar dysfunction such as unsteadiness and lack of muscle coordination or jerky movements of the eyes may occur. [urmc.rochester.edu]
The major clinical symptoms of the disease are hydrocephalus, weakening of physical strenth and athletic abilities, macrocephaly, cerebellar disorders like ataxia, nystagmus and irritability, vomiting from IICP. [e-rvs.org]
In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur [ninds.nih.gov]
- Ataxia
MalaCards based summary: Dandy-Walker Syndrome, also known as dandy-walker malformation, is related to corpus callosum, agenesis of and hydrocephalus, and has symptoms including cerebellar ataxia and ataxia, truncal. [malacards.org]
The major clinical symptoms of the disease are hydrocephalus, weakening of physical strenth and athletic abilities, macrocephaly, cerebellar disorders like ataxia, nystagmus and irritability, vomiting from IICP. [e-rvs.org]
Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. [hon.ch]
He remained well for a further three years until developing the more classical adult presenting features of cognitive impairment, disordered gait and ataxia. [ncbi.nlm.nih.gov]
Early Onset [T370693] Early Onset Cerebellar Ataxia [T370694] Cerebellar Ataxia, Late Onset [T370695] Late Onset Cerebellar Ataxia [T370696] Cerebellar Degenerations, Primary [T370697] Corticostriatal-Spinal Degeneration [T370698] Marie Cerebellar Ataxia [medvik.cz]
- Stroke
National Institute of Neurological Disorders and Stroke website. Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Dandy-Walker-Syndrome-Information-Page. Hydrocephalus in children. EBSCO DynaMed website. [winchesterhospital.org]
The aim of our case report is to reveal the asymptomatic nature of Dandy Walker syndrome in 66 year male patient who came with ischemic stroke and had not shown any cerebellar and hydrocephalus signs and led normal life till ischemic stroke occurred which [japi.org]
Neurological Disorders and Stroke » [brainfacts.org]
The Neuro-ICU cares for patients with all types of neurosurgical and neurological injuries, including stroke, brain hemorrhage, trauma and tumors. [neurosurgery.ucla.edu]
- Nystagmus
So we prescribed PO medication on the assumption that she had right sudden sensoryneural hearing loss with vertigo, however left nystagmus was seen in her physical examination after discharge. [e-rvs.org]
Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. [hon.ch]
Among the clinical signs are occipital protuberances, a progressive increase of the skull, bowing before the fontanels, papilledema, ataxia, gait disturbances, nystagmus, and intellectual impairment. [scielo.br]
의료진 김용진, 이정렬, 김웅한, 임홍국, 곽재건, 왕규창, 김승기, 피지훈, 이지연, 채종희, 임병찬 관련 질환명 댄디-워커 복합체 (Dandy-Walker complex ) 댄디-워커 변이 ( Dandy-Walker variant ) 거대대조 ( mega-cisterna magna ) 증상 구토, 대두증(macrocephaly), 비정상적인 호흡패턴, 안구진탕증(nystagmus, jerky eyes), 운동능력 발달의 지체 관련 클리닉 질환정보 [raredisease.snuh.org]
Workup
Central nervous system structures should be evaluated in all basic obstetric ultrasounds. If there are any noted malformations then neurosonography should be performed by medical professionals with expertise in this area.
Laboratory diagnosis
Genetic testing is done for the known genes if a genetic component is suspect, due to higher recurrence rates in siblings. Beyond this there routine investigations are indicated and dependent on the other malformations noted.
Imaging
Ultrasonography during pregnancy is the best available option, but if there is uncertainty then magnetic resonance imaging may provide additional information that may influence subsequent decisions concerning the pregnancy. For the children who have the suspected malformations, magnetic resonance imaging is the gold standard in making the diagnosis. CT scans are not advised due to the radiation. Other modalities such as echocardiography may be used to assess the associated cardiac anomalies [9].
X-Ray
- Posterior Fossa Cysts
Treatment When treatment is necessary, the posterior fossa cyst needs to be shunted to allow proper flow of cerebrospinal fluid. [neurosurgery.ucla.edu]
The Dandy-Walker syndrome (DWS) can be accurately diagnosed in utero by sonographic demonstration of characteristic morphologic changes of the fetus, which includes hydrocephalus, incomplete cerebellar vermis and a posterior fossa cyst. [ncbi.nlm.nih.gov]
Serum
- Karyotype Abnormal
Because the syndrome is associated with an increased risk for fetal karyotype abnormalities, amniocentesis can be offered after prenatal diagnosis. [urmc.rochester.edu]
이증후군은 테아 핵형이상(胎兒 核形成異常-fetal karyotype abnormalities)의 위험을 증가와 관련이 되기에 출생전진단후 양수천자(羊水穿刺-amniocentesis)을 권하게 된다. 임신중에는 와파린(Warfarin)의 복용이 금기(禁忌-contraindication)시 되고 있는데 특히 임신 3개월까지 덴디-위커증후군의 위험을 증가시키게 된다. [m.blog.naver.com]
No reports on complications of DWS in other karyotypic abnormalities of chromosome 18 have been found. Table 2. [onlinelibrary.wiley.com]
Other Pathologies
- Occipital Encephalocele
It is rare for Dandy-Walker syndrome to occur together with occipital encephalocele. The authors present a case of Dandy-Walker syndrome together with occipital encephalocele. [ncbi.nlm.nih.gov]
Some of the patients have other malformations associated with this syndrome include, Occipital Encephalocel, facial angioma, midline cleft palate, cardiovascular malformations and polycystic kidney. Hydrocephalus is not presen at birth. [rjms.iums.ac.ir]
Treatment
The treatment is mostly supportive with surgical interventions being used to reduce the hydrocephalus. Other supportive care includes occupational and physical therapy and special education. Certain malformations may require corrective surgery such as cardiac or maxillofacial malformations.
Prognosis
Prognosis is dependent on the severity of the malformations that are present and the associated malformations such as cardiac defects. Individuals with more significant malformations having worse prognosis and outcomes.
Etiology
The malformations in Dandy-Walker syndrome are due to defects in early embryonic development of the cerebellum and its surrounding structures. The characteristic triad includes complete or near complete agenesis of the cerebellar vermis, cystic dilatation of the fourth ventricle and an enlarged posterior fossa with displacement of the above tentorium and torcular herophili upwards. There are many possible causes of the Dandy-Walker syndrome, but it has been noted that chromosomal aneuploidy and various exposures such as rubella and alcohol during early pregnancy (this is thought to account for most of the cases) are common etiologic factors. There are also a fee gene deletions associated with the syndrome, such a chromosome 3q2 deletions, the location of the ZIC1 and ZIC4 genes [4] [5].
Epidemiology
Dandy-Walker syndrome is rare with estimates ranging from 1 in 25,000 to 1 in 30,000 newborns. It is more predominant in female babies. Recurrence in siblings may be high when there is a genetic component like a single gene aberration, but the recurrence maybe associated with persistence of environmental factors. It accounts for approximately 1 to 4% of the cases of hydrocephalus [6].
Pathophysiology
The vermis completes its formation at about 13 to 14 postmenstrual weeks (or as late as the 16th week). Insults to the development of varying degree are believed to contribute to the genesis of the malformation. There have been a number of theories, but dysembryogenesis of the hindbrain is thought to be the insisting event that leads to the arrest in the formation the hindbrain, with lack in the fusion or the cerebellar hemispheres [7].
Prevention
Timely obstetric ultrasounds and genetic testing for suspect inherited cause should be conducted to make decisions about the management of the pregnancy. Genetic counselling is needed for those families found to have the genetic aberrations. Avoidance of identified environmental causes such as alcohol is necessary. Vaccination against rubella to all females in their child bearing years is recommended [10].
Summary
The Dandy-Walker syndrome is a rare central nervous system congenital malformation that primarily affect the fourth ventricle (cystic dilatation) and cerebellar vermis, with enlargement of the posterior fossa. The Dandy-Walker syndrome may include malformations of the genital-urinary system, cardiac system and face and polydactyly [3].
Patient Information
Definition: Dandy-Walker syndrome is a condition that causes abnormal brain development, during the early parts of pregnancy. It primarily affects the part of the brain that coordinates movement, the cerebellum. There may be other malformations in the heart, face and digits.
Cause: It may be caused by genetic problems, but this account for a few cases. Most of the cases are thought to be caused by environmental toxins and some infections. These factors include alcohol ingestion during pregnancy. Infections such as rubella in the first trimester are thought to be a cause as well.
Symptoms: The major symptoms are due to increased pressure in the head due to fluid accumulation. This can be evident by a large head, irritability, vomiting, and slow mental development and coordination. Other symptoms such as a staggering gate may be noted. Hyperactivity may also be evident.
Diagnosis: The diagnosis can be made on a routine obstetric ultrasound but more specialized doctors should be the ones doing the scans if the malformation is suspected in previous scans. In young children magnetic resonance imaging of the brain is the best modality. Genetic tests may be also done to look for the genes that cause this syndrome, because if present there is an increased risk of following pregnancies having the malformations.
Treatment: Treatment includes reliving pressure in the brain by placing a tube in the brain and diverting the fluid. The rest of the treatment is supportive and includes occupational and physical therapy. The children may require special schools to assist with their learning difficulties. Genetic counselling may be required in families found to have a gene problem causing Dandy-Walker syndrome.
References
- International Society of Ultrasound in Obstetrics & Gynecology Education Committee. Sonographic examination of the fetal central nervous system: guidelines for performing the 'basic examination' and the 'fetal neurosonogram'. Ultrasound Obstet Gynecol 2007; 29:109.
- Russ PD, Pretorius DH, Johnson MJ. Dandy-Walker syndrome: a review of fifteen cases evaluated by prenatal sonography. Am J Obstet Gynecol 1989; 161:401.
- Hirsch JF, Pierre-Kahn A, Renier D, et al. The Dandy-Walker malformation. A review of 40 cases. J Neurosurg 1984; 61:515.
- Bromley B, Nadel AS, Pauker S, et al. Closure of the cerebellar vermis: evaluation with second trimester US. Radiology 1994; 193:761.
- Phillips JJ, Mahony BS, Siebert JR, et al. Dandy-Walker malformation complex: correlation between ultrasonographic diagnosis and postmortem neuropathology. Obstet Gynecol 2006; 107:685.
- Osenbach RK, Menezes AH. Diagnosis and management of the Dandy-Walker malformation: 30 years of experience. Pediatr Neurosurg 1992; 18:179.
- Bromley B, Nadel AS, Pauker S, et al. Closure of the cerebellar vermis: evaluation with second trimester US. Radiology 1994; 193:761.
- Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F. Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003 Aug;19 (7-8):484-9. Epub 2003 Jul 16.
- Fileni A, Colosimo C Jr, Mirk P, et al. Dandy-Walker syndrome: diagnosis in utero by means of ultrasound and CT correlations. Neuroradiology 1983; 24:233.
- Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet. 2004 Oct;36(10):1053-5.